Thrombophilia resident survival guide: Difference between revisions
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==Overview== | ==Overview== | ||
[[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]] or acquired, nevertheless most of the time [[thrombophilia]] is due to an interplay between both [[Heredity|inherited]] and acquired factors. [[Protein C deficiency]] is the most common cause of [[Heredity|inherited]] [[thrombophilia]]. This [[Thrombus|clot formation]] tendency can lead to [[vein|venous]] [[thrombus]] formation and subsequent conditions such as [[pulmonary embolism]], [[deep venous thrombosis]], [[Miscarriage|pregnancy loss]], [[myocardial infarction]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added. [[Symptom|symptoms]] are generally depended on [[Organ (anatomy)|organ]] that is involved. | [[Thrombophilia]] is defined as a predilection for [[Thrombus|clot formation]] ([[thrombosis]]). It could be [[Heredity|inherited]]/[[Genetics|genetical]] or acquired, nevertheless most of the time [[thrombophilia]] is due to an interplay between both [[Heredity|inherited]] and acquired factors. [[Protein C deficiency]] is the most common cause of [[Heredity|inherited]] [[thrombophilia]]. This [[Thrombus|clot formation]] tendency can lead to [[vein|venous]] [[thrombus]] formation and subsequent conditions such as [[pulmonary embolism]], [[deep venous thrombosis]], [[Miscarriage|pregnancy loss]], [[Pre-eclampsia|severe pre-eclampsia]], [[myocardial infarction]] and [[stroke]]. Most of [[patient|patients]] with [[thrombophilia]] may remain [[symptom|asymptomatic]] until another [[thrombophilia|thrombophilic]] condition has been added and [[patient|patients]] with more than one [[Heredity|inherited]]/[[Genetics|genetical]] defects carry higher chance of [[thrombus formation]]. [[Symptom|symptoms]] are generally depended on [[Organ (anatomy)|organ]] that is involved. | ||
==Causes== | ==Causes== | ||
Known causes of [[thrombophilia]] include:<ref name="pmid16968541">{{cite journal| author=Khan S, Dickerman JD| title=Hereditary thrombophilia. | journal=Thromb J | year= 2006 | volume= 4 | issue= | pages= 15 | pmid=16968541 | doi=10.1186/1477-9560-4-15 | pmc=1592479 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16968541 }} </ref><ref name="pmid33108787">{{cite journal| author=Femi-Akinlosotu OM, Shokunbi MT| title=Changes in Neuronal Density of the Sensorimotor Cortex and Neurodevelopmental Behaviour in Neonatal Mice with Kaolin-Induced Hydrocephalus. | journal=Pediatr Neurosurg | year= 2020 | volume= | issue= | pages= 1-10 | pmid=33108787 | doi=10.1159/000510603 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33108787 }} </ref><ref name="pmid12648968">{{cite journal| author=Rey E, Kahn SR, David M, Shrier I| title=Thrombophilic disorders and fetal loss: a meta-analysis. | journal=Lancet | year= 2003 | volume= 361 | issue= 9361 | pages= 901-8 | pmid=12648968 | doi=10.1016/S0140-6736(03)12771-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12648968 }} </ref><ref name="pmid27913540">{{cite journal| author=Wun T, Brunson A| title=Sickle cell disease: an inherited thrombophilia. | journal=Hematology Am Soc Hematol Educ Program | year= 2016 | volume= 2016 | issue= 1 | pages= 640-647 | pmid=27913540 | doi=10.1182/asheducation-2016.1.640 | pmc=6142455 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27913540 }} </ref> | |||
* [[Protein C deficiency]] (most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]]) | * [[Protein C deficiency]] (most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]]) | ||
* [[Thrombin|Prothrombin gene mutation]] such as [[thrombin|Prothrombin G20210A]], which is the second most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]] | * [[Thrombin|Prothrombin gene mutation]] such as [[thrombin|Prothrombin G20210A]], which is the second most common cause of [[Heredity|inherited]] [[Thrombophilia|hypercoagulable state]] | ||
* [[Factor V Leiden]] | * [[Factor V Leiden]] | ||
* [[Protein S deficiency]] | * [[Protein S deficiency]] | ||
* [[Antithrombin deficiency]] | * [[Antithrombin deficiency]] or [[antithrombin]] reduction due to [[Hepato-biliary diseases|liver disease]] and/or [[malnutrition|severe malnutrition]] | ||
* [[medication|Medications]] such as [[Oral contraceptive|combined oral contraceptives]], [[bevacizumab]], [[lenalidomide]], [[asparaginase]], [[erythropoietin]], [[raloxifene]], [[tamoxifen]], [[tranexamic acid]], [[heparin]], [[ethinylestradiol]] and [[hormone replacement therapy]] | * [[medication|Medications]] such as [[Oral contraceptive|combined oral contraceptives]], [[bevacizumab]], [[lenalidomide]], [[asparaginase]], [[erythropoietin]], [[raloxifene]], [[tamoxifen]], [[tranexamic acid]], [[heparin]], [[ethinylestradiol]] and [[hormone replacement therapy]] | ||
* Elevation in some [[Coagulation|coagulation factors]] such as [[Factor VII|VII]], [[Factor VIII|VIII]], [[Factor IX|IX]] and [[Factor XI|XI]] | |||
* Elevation in some [[Coagulation|coagulation factors]] such as [[Factor VIII|VIII]], [[Factor IX|IX]] and [[Factor XI|XI]] | |||
* [[Fibrinogen|Dysfibrinogenemia]] | * [[Fibrinogen|Dysfibrinogenemia]] | ||
* Hyperhomocysteinemia and [[Methylenetetrahydrofolate reductase|Methylenetetrahydrofolate]] [[mutation]] | * Hyperhomocysteinemia and [[Methylenetetrahydrofolate reductase|Methylenetetrahydrofolate]] [[mutation]] | ||
| Line 40: | Line 25: | ||
* [[Sickle cell disease]] | * [[Sickle cell disease]] | ||
* [[Chronic renal insufficiency]] | * [[Chronic renal insufficiency]] | ||
* [[Systemic lupus erythematosus]] | |||
* [[Pregnancy]] | |||
* [[Antiphospholipid Syndrome]] | |||
* [[Cancer|Malignancy]] | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 21:07, 31 October 2020
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anahita Deylamsalehi, M.D.[2]
Synonyms and keywords:
Overview
Thrombophilia is defined as a predilection for clot formation (thrombosis). It could be inherited/genetical or acquired, nevertheless most of the time thrombophilia is due to an interplay between both inherited and acquired factors. Protein C deficiency is the most common cause of inherited thrombophilia. This clot formation tendency can lead to venous thrombus formation and subsequent conditions such as pulmonary embolism, deep venous thrombosis, pregnancy loss, severe pre-eclampsia, myocardial infarction and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added and patients with more than one inherited/genetical defects carry higher chance of thrombus formation. symptoms are generally depended on organ that is involved.
Causes
Known causes of thrombophilia include:[1][2][3][4]
- Protein C deficiency (most common cause of inherited hypercoagulable state)
- Prothrombin gene mutation such as Prothrombin G20210A, which is the second most common cause of inherited hypercoagulable state
- Factor V Leiden
- Protein S deficiency
- Antithrombin deficiency or antithrombin reduction due to liver disease and/or severe malnutrition
- Medications such as combined oral contraceptives, bevacizumab, lenalidomide, asparaginase, erythropoietin, raloxifene, tamoxifen, tranexamic acid, heparin, ethinylestradiol and hormone replacement therapy
- Elevation in some coagulation factors such as VII, VIII, IX and XI
- Dysfibrinogenemia
- Hyperhomocysteinemia and Methylenetetrahydrofolate mutation
- Plasminogen deficiency
- Elevated Lipoprotein(a)
- Klinefelter syndrome
- Polycythemia vera
- Paroxysmal Nocturnal Hemoglobinuria
- Sickle cell disease
- Chronic renal insufficiency
- Systemic lupus erythematosus
- Pregnancy
- Antiphospholipid Syndrome
- Malignancy
Diagnosis
Shown below is an algorithm summarizing the diagnosis of [[disease name]] according the the [...] guidelines.
Treatment
Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.
Do's
- The content in this section is in bullet points.
Don'ts
- The content in this section is in bullet points.
References
- ↑ Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J. 4: 15. doi:10.1186/1477-9560-4-15. PMC 1592479. PMID 16968541.
- ↑ Femi-Akinlosotu OM, Shokunbi MT (2020). "Changes in Neuronal Density of the Sensorimotor Cortex and Neurodevelopmental Behaviour in Neonatal Mice with Kaolin-Induced Hydrocephalus". Pediatr Neurosurg: 1–10. doi:10.1159/000510603. PMID 33108787 Check
|pmid=value (help). - ↑ Rey E, Kahn SR, David M, Shrier I (2003). "Thrombophilic disorders and fetal loss: a meta-analysis". Lancet. 361 (9361): 901–8. doi:10.1016/S0140-6736(03)12771-7. PMID 12648968.
- ↑ Wun T, Brunson A (2016). "Sickle cell disease: an inherited thrombophilia". Hematology Am Soc Hematol Educ Program. 2016 (1): 640–647. doi:10.1182/asheducation-2016.1.640. PMC 6142455. PMID 27913540.